在了解独特的翻译后修饰及其在遗传疾病中的作用的道路上迈出了一大步
1Department of Pathology, Washington University School of Medicine, St. Louis, MO 63110, USA.
Cell
|May 22, 2003
概括
多重硫酶缺乏症 (MSD) 源于硫酶中氨酸修饰的受损. 研究人员现在已经确定了对这种关键的翻译后修饰负责的基因,为治疗这种罕见疾病提供了新的希望.
科学领域:
- 生物化学 生物化学
- 遗传学 是一个遗传学.
- 分子生物学分子生物学
背景情况:
- 多重硫酸酶缺乏症 (MSD) 是一种严重的遗传性疾病,其特征是所有硫酸酶活动的缺乏.
- 这种缺陷是由于硫酸酶的催化部位内氨酸转化后修改成C ((alpha) -formylglycine的缺陷造成的.
- 这种关键修饰的精确分子基础仍然难以捉摸,阻碍了治疗的发展.
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